Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Lamin A/C
Synonyms	LGMD1B LMN1 CMD1A
ID	http://www.limics.org/hrdo/rdfns#gen_id_16364
altLabel	LGMD1B LMN1 CMD1A
geneSymbol	LMNA
id_Ensembl	ENSG00000160789
id_Genatlas	LMNA
id_HGNC	6636
id_MIM	150330
id_Reactome	P02545
id_SwissProt	P02545
prefixIRI	hrdo:gen_id_16364
prefLabel	Lamin A/C
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.org/skeletome/bonedysplasia#P000104	BDO	LOOM
http://purl.bioontology.org/ontology/OMIM/150330	OMIM	LOOM
http://www.orpha.net/ORDO/Orphanet_123090	ORDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C136976	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C136976	NCIT	LOOM